Results 101 to 110 of about 3,609 (206)
The Genetic Diversity of Cystinuria in a UK Population of Patients
, 2014 Objective To examine the genetic mutations in the first UK cohort of patients with cystinuria with preliminary genotype/phenotype correlation. Patients and Methods DNA sequencing and multiplex ligation-dependent probe amplification (MLPA ...
Wass, Mark N. +13 more
core +1 more source
Bone mineral density assessment in patients with cystinuria
Background: Cystinuria is a rare genetic disease characterized by impaired tubular transport of cystine. Clinical features of cystinuria mainly include nephrolithiasis and its complications, although cystinuric patients may present with other ...
Ambrogio, Martina +15 more
core +1 more source
Juvenilis macular degeneration in a family affected by cystinuria
, 1980 This paper deals with a family affected by cystinuria associated with eye signs of juvenilis macular ...
Bonavolonta G +3 more
core
Cystinuria: An Overview of Challenges and Surgical Management
Frontiers in Surgery, 2022 Calum Stephen Clark +3 more
doaj +1 more source
Cystine nephrolithiasis in an endangered canid, Chrysocyon brachyurus (Carnivora: Canidae)
Revista de Biología Tropical, 1999 Se halló cálculos de cistina en la pelvis renal de un ejemplar adulto de Chrysocyon brachyurus (aguará-guazú), cuya muerte había ocurrido en el zoológico de Sáenz Peña (Chaco).
Norma B. Mussart, José A. Coppo
doaj
Cystinuria : definition, epidemiology and clinical aspects
, 2004 Cystinuria ia an inheritable autosomal recessive disorder of amino acids transport affecting the epithelial cells of the renal tubules and gastrointestinal tract. It is characterized by abnormal concentrations of cystine and the other dibasic amino acids
A. Trinchieri +3 more
core
Bilateral Life-Threatening Obstructive Cystine Stones in a 19-Month-Old Child Requiring Staged Endourological Management: A Case Report. [PDF]
CureusBakhsh E +10 more
europepmc +1 more source